ClinVar Miner

List of variants in gene INVS reported as benign for Nephronophthisis

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00384
NM_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014425.5(INVS):c.2775C>T (p.Arg925=) rs146360442 0.00071
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014425.5(INVS):c.2604C>T (p.Ser868=) rs751765105 0.00003
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.2069-18_2069-16del rs577372332
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2719C>A (p.Arg907=) rs267607185
NM_014425.5(INVS):c.273+13del
NM_014425.5(INVS):c.2786+14del
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.448-10G>A

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